• Gene id: 51761

Gene Summary

• Gene Symbol: ATP8A2   Gene   UCSC   Ensembl
• Aliases: ATP, ATPIB, CAMRQ4, IB, ML-1
• Gene name: ATPase phospholipid transporting 8A2
• Alternate names: phospholipid-transporting ATPase IB, ATPase, aminophospholipid transporter, class I, type 8A, member 2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2, P4-ATPase flippase complex alpha subunit ATP8A2, probable phospholipid-transporting,
• Gene location: 13q12.13 (25371973: 26025850)     Exons: 46     NC_000013.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of t
• OMIM: 605870

Protein Summary

• Protein general information: Q9NTI2  
  • Name: Phospholipid transporting ATPase IB (EC 7.6.2.1) (ATPase class I type 8A member 2) (ML 1) (P4 ATPase flippase complex alpha subunit ATP8A2)
  • Length: 1188  
  • Mass: 133599
  • Tissue specificity: Strongly expressed in the brain, cerebellum, retina and testis. {ECO
• Sequence:

  MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHLNKFRDNQIST
  AKYSVLTFLPRFLYEQIRRAANAFFLFIALLQQIPDVSPTGRYTTLVPLIIILTIAGIKEIVEDFKRHKADNAVN
  KKKTIVLRNGMWHTIMWKEVAVGDIVKVVNGQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADM
  QTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQILLRGTQLRNTQWVFGIVVYTGHDTKLMQNST
  KAPLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFGYNLLTFIILYNNLIP
  ISLLVTLEVVKYTQALFINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTY
  GHFPELAREPSSDDFCRMPPPCSDSCDFDDPRLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASS
  PDEAALVKGAKKLGFVFTARTPFSVIIEAMGQEQTFGILNVLEFSSDRKRMSVIVRTPSGRLRLYCKGADNVIFE
  RLSKDSKYMEETLCHLEYFATEGLRTLCVAYADLSENEYEEWLKVYQEASTILKDRAQRLEECYEIIEKNLLLLG
  ATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLVSQNMALILLKEDSLDATRAAITQHCTDL
  GNLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGAND
  VGMIQTAHVGVGISGNEGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVN
  GFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKVFWGHCINALVHSLIL
  FWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYSTIWP
  TIPIAPDMRGQATMVLSSAHFWLGLFLVPTACLIEDVAWRAAKHTCKKTLLEEVQELETKSRVLGKAVLRDSNGK
  RLNERDRLIKRLGRKTPPTLFRGSSLQQGVPHGYAFSQEEHGAVSQEEVIRAYDTTKKKSRKK

• Structural information:
  • Interpro: IPR023299  IPR018303  IPR023298  IPR008250  IPR036412   IPR023214  IPR006539  IPR032631  IPR001757  IPR032630  
  • Prosite: PS00154
  • STRING: ENSP00000371070
• Other Databases: GeneCards:  ATP8A2  Malacards:  ATP8A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0045332	phospholipid translocation	IBA	biological process
GO:0048666	neuron development	IBA	biological process
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0015914	phospholipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0061092	positive regulation of phospholipid translocation	IEA	biological process
GO:0042755	eating behavior	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0015247	aminophospholipid flippase activity	IEA	molecular function
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0010842	retina layer formation	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0060052	neurofilament cytoskeleton organization	IEA	biological process
GO:0050908	detection of light stimulus involved in visual perception	IEA	biological process
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0003011	involuntary skeletal muscle contraction	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0140331	aminophospholipid translocation	IEA	biological process

Diseases

Associated diseases	References
Cerebellar ataxia, mental retardation	KEGG:H01204
Cerebellar ataxia, mental retardation	KEGG:H01204
Cryptorchidism	MIK: 28606200
Globozoospermia	MIK: 31985809
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31985809	Globozoospermia	p.(Arg778Gln)		16 infertile patients	Male infertility	NGS